Canonical Allele Identifier: CA1881753480

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513288_131513289delinsAT , CM000671.2:g.131513288_131513289delinsAT	GRCh38
NC_000009.11:g.134388675_134388676delinsAT , CM000671.1:g.134388675_134388676delinsAT	GRCh37
NC_000009.10:g.133378496_133378497delinsAT	NCBI36
NG_008896.1:g.15387_15388delinsAT
NG_008896.2:g.15387_15388delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.970_971delinsAT	ENSP00000343034.7:p.Met324=
ENST00000404875.7:n.1672_1673delinsAT
ENST00000423007.6:c.1189_1190delinsAT	ENSP00000404119.2:p.Met397=
ENST00000677295.2:c.*1476_*1477delinsAT	ENSP00000504346.2:n.*1476_*1477delinsAT
ENST00000678264.2:c.*1315_*1316delinsAT	ENSP00000503157.2:n.*1315_*1316delinsAT
ENST00000682070.1:n.1597_1598delinsAT
ENST00000682813.1:n.1397_1398delinsAT
ENST00000683392.1:n.3879_3880delinsAT
ENST00000683712.1:n.1537_1538delinsAT
ENST00000683900.1:n.3032_3033delinsAT
ENST00000684062.1:n.1798_1799delinsAT
ENST00000684579.1:n.2978_2979delinsAT
ENST00000341012.12:c.970_971delinsAT	ENSP00000343034.7:p.Met324=
ENST00000372220.5:c.1_2delinsAT	ENSP00000361294.5:p.Met1=
ENST00000372228.9:c.1198_1199delinsAT	ENSP00000361302.3:p.Met400=
ENST00000402686.8:c.1132_1133delinsAT MANE Select	ENSP00000385797.4:p.Met378=
ENST00000676640.1:c.1132_1133delinsAT	ENSP00000503281.1:p.Met378=
ENST00000676803.1:c.307_308delinsAT	ENSP00000503093.1:p.Met103=
ENST00000676835.1:c.*347_*348delinsAT	ENSP00000502911.1:n.*347_*348delinsAT
ENST00000677029.1:c.676_677delinsAT	ENSP00000502936.1:p.Met226=
ENST00000677099.1:c.*842_*843delinsAT	ENSP00000504553.1:n.*842_*843delinsAT
ENST00000677216.1:c.781_782delinsAT	ENSP00000503772.1:p.Met261=
ENST00000677293.1:c.307_308delinsAT	ENSP00000504278.1:p.Met103=
ENST00000677295.1:c.*509_*510delinsAT	ENSP00000504346.1:n.*509_*510delinsAT
ENST00000677444.1:c.938_939delinsAT
ENST00000677586.1:n.613_614delinsAT
ENST00000677626.1:c.824+1821_824+1822delinsAT	ENSP00000503552.1:n.824+1821_824+1822deli...
ENST00000677677.1:n.1092_1093delinsAT
ENST00000677853.1:c.*140_*141delinsAT	ENSP00000503488.1:n.*140_*141delinsAT
ENST00000677944.1:c.394_395delinsAT
ENST00000678264.1:c.*509_*510delinsAT	ENSP00000503157.1:n.*509_*510delinsAT
ENST00000678303.1:c.1042_1043delinsAT	ENSP00000503696.1:p.Met348=
ENST00000678366.1:c.*1381_*1382delinsAT	ENSP00000504353.1:n.*1381_*1382delinsAT
ENST00000678546.1:c.*1077_*1078delinsAT	ENSP00000503062.1:n.*1077_*1078delinsAT
ENST00000678548.1:c.*1204_*1205delinsAT	ENSP00000503934.1:n.*1204_*1205delinsAT
ENST00000678626.1:n.829_830delinsAT
ENST00000678733.1:c.256+1152_256+1153delinsAT
ENST00000678739.1:c.*1458_*1459delinsAT	ENSP00000503806.1:n.*1458_*1459delinsAT
ENST00000678795.1:n.219_220delinsAT
ENST00000678833.1:c.*579_*580delinsAT	ENSP00000503893.1:n.*579_*580delinsAT
ENST00000678942.1:c.312_313delinsAT	ENSP00000504690.1:n.312_313delinsAT
ENST00000679023.1:c.970_971delinsAT	ENSP00000503718.1:p.Met324=
ENST00000679073.1:c.510_511delinsAT	ENSP00000504356.1:n.510_511delinsAT
ENST00000679076.1:c.751_752delinsAT
ENST00000679111.1:c.1132_1133delinsAT	ENSP00000504257.1:p.Met378=
ENST00000679189.1:c.781_782delinsAT	ENSP00000503356.1:p.Met261=
ENST00000341012.11:c.970_971delinsAT	ENSP00000343034.7:p.Met324=
ENST00000372228.7:c.1198_1199delinsAT	ENSP00000361302.3:p.Met400=
ENST00000402686.7:c.1132_1133delinsAT	ENSP00000385797.3:p.Met378=
ENST00000404875.6:c.781_782delinsAT	ENSP00000384531.2:p.Met261=
ENST00000423007.5:c.1132_1133delinsAT	ENSP00000404119.1:p.Met378=
ENST00000441334.5:c.847_848delinsAT	ENSP00000395060.1:p.Met283=
ENST00000462375.5:n.958_959delinsAT
ENST00000485278.5:n.1687_1688delinsAT
NM_001077365.1:c.1132_1133delinsAT	NP_001070833.1:p.Met378=
NM_001077366.1:c.970_971delinsAT	NP_001070834.1:p.Met324=
NM_001136113.1:c.1132_1133delinsAT	NP_001129585.1:p.Met378=
NM_001136114.1:c.781_782delinsAT	NP_001129586.1:p.Met261=
NM_007171.3:c.1198_1199delinsAT	NP_009102.3:p.Met400=
XM_005272156.1:c.1198_1199delinsAT	XP_005272213.1:p.Met400=
XM_005272158.1:c.1036_1037delinsAT	XP_005272215.1:p.Met346=
XM_005272159.1:c.847_848delinsAT	XP_005272216.1:p.Met283=
XM_005272162.1:c.1_2delinsAT	XP_005272219.1:p.Met1=
XM_006716932.1:c.847_848delinsAT	XP_006716995.1:p.Met283=
XM_011518140.1:c.1051_1052delinsAT	XP_011516442.1:p.Met351=
XM_011518141.1:c.985_986delinsAT	XP_011516443.1:p.Met329=
XM_011518142.1:c.889_890delinsAT	XP_011516444.1:p.Met297=
XM_011518143.1:c.883_884delinsAT	XP_011516445.1:p.Met295=
XM_011518144.1:c.1198_1199delinsAT	XP_011516446.1:p.Met400=
XM_011518145.1:c.742_743delinsAT	XP_011516447.1:p.Met248=
XM_011518146.1:c.883_884delinsAT	XP_011516448.1:p.Met295=
XR_929703.1:n.1374_1375delinsAT
NM_001353193.1:c.1198_1199delinsAT	NP_001340122.1:p.Met400=
NM_001353194.1:c.970_971delinsAT	NP_001340123.1:p.Met324=
NM_001353195.1:c.781_782delinsAT	NP_001340124.1:p.Met261=
NM_001353196.1:c.1042_1043delinsAT	NP_001340125.1:p.Met348=
NM_001353197.1:c.1036_1037delinsAT	NP_001340126.1:p.Met346=
NM_001353198.1:c.1036_1037delinsAT	NP_001340127.1:p.Met346=
NM_001353199.1:c.847_848delinsAT	NP_001340128.1:p.Met283=
NM_001353200.1:c.676_677delinsAT	NP_001340129.1:p.Met226=
NR_148391.1:n.1182_1183delinsAT
NR_148392.1:n.1400_1401delinsAT
NR_148393.1:n.1182_1183delinsAT
NR_148394.1:n.1075_1076delinsAT
NR_148395.1:n.1334_1335delinsAT
NR_148396.1:n.968_969delinsAT
NR_148397.1:n.1232_1233delinsAT
NR_148398.1:n.1187_1188delinsAT
NR_148399.1:n.1574_1575delinsAT
NR_148400.1:n.1173_1174delinsAT
XM_005272162.3:c.1_2delinsAT	XP_005272219.1:p.Met1=
XM_006716932.2:c.847_848delinsAT	XP_006716995.1:p.Met283=
XM_011518140.2:c.1051_1052delinsAT	XP_011516442.1:p.Met351=
XM_011518141.2:c.985_986delinsAT	XP_011516443.1:p.Met329=
XM_011518142.2:c.889_890delinsAT	XP_011516444.1:p.Met297=
XM_011518143.2:c.883_884delinsAT	XP_011516445.1:p.Met295=
XM_011518145.2:c.742_743delinsAT	XP_011516447.1:p.Met248=
XM_017014205.2:c.1_2delinsAT	XP_016869694.1:p.Met1=
XM_024447380.1:c.1_2delinsAT	XP_024303148.1:p.Met1=
XM_024447381.1:c.307_308delinsAT	XP_024303149.1:p.Met103=
XM_024447382.1:c.1_2delinsAT	XP_024303150.1:p.Met1=
XR_001746160.2:n.1302_1303delinsAT
XR_001746162.2:n.1368_1369delinsAT
XR_001746164.1:n.1085_1086delinsAT
XR_001746166.2:n.1519_1520delinsAT
NM_001077365.2:c.1132_1133delinsAT MANE Select	NP_001070833.1:p.Met378=
NM_001077366.2:c.970_971delinsAT	NP_001070834.1:p.Met324=
NM_001136113.2:c.1132_1133delinsAT	NP_001129585.1:p.Met378=
NM_001136114.2:c.781_782delinsAT	NP_001129586.1:p.Met261=
NM_001353193.2:c.1198_1199delinsAT	NP_001340122.2:p.Met400=
NM_001353194.2:c.970_971delinsAT	NP_001340123.1:p.Met324=
NM_001353195.2:c.781_782delinsAT	NP_001340124.1:p.Met261=
NM_001353196.2:c.1042_1043delinsAT	NP_001340125.1:p.Met348=
NM_001353197.2:c.1036_1037delinsAT	NP_001340126.2:p.Met346=
NM_001353198.2:c.1036_1037delinsAT	NP_001340127.2:p.Met346=
NM_001353199.2:c.847_848delinsAT	NP_001340128.2:p.Met283=
NM_001353200.2:c.676_677delinsAT	NP_001340129.1:p.Met226=
NM_001374689.1:c.1120_1121delinsAT	NP_001361618.1:p.Met374=
NM_001374690.1:c.1132_1133delinsAT	NP_001361619.1:p.Met378=
NM_001374691.1:c.781_782delinsAT	NP_001361620.1:p.Met261=
NM_001374692.1:c.781_782delinsAT	NP_001361621.1:p.Met261=
NM_001374693.1:c.824+1821_824+1822delinsAT	NP_001361622.1:n.824+1821_824+1822delinsA...
NM_001374695.1:c.742_743delinsAT	NP_001361624.1:p.Met248=
NM_007171.4:c.1198_1199delinsAT	NP_009102.4:p.Met400=
NR_148391.2:n.1166_1167delinsAT
NR_148392.2:n.1384_1385delinsAT
NR_148393.2:n.1166_1167delinsAT
NR_148394.2:n.1059_1060delinsAT
NR_148395.2:n.1318_1319delinsAT
NR_148396.2:n.952_953delinsAT
NR_148397.2:n.1216_1217delinsAT
NR_148398.2:n.1171_1172delinsAT
NR_148399.2:n.1558_1559delinsAT
NR_148400.2:n.1157_1158delinsAT